Canonical Allele Identifier: PA916053573
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 593201
ClinVar RCV Id: RCV000728176 RCV001868928
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476505.3:p.Ser992Arg
CA2188977
NM_057164.5:c.2976C>A
CA351196565
NM_057164.5:c.2976C>G
CA351196581
NM_057164.5:c.2974A>C